Rhodopsin mutations in autosomal dominant retinitis pigmentosa

@article{alMaghtheh1993RhodopsinMI,
  title={Rhodopsin mutations in autosomal dominant retinitis pigmentosa},
  author={M. al-Maghtheh and C. Gregory and C. Inglehearn and A. Hardcastle and S. Bhattacharya},
  journal={Human Mutation},
  year={1993},
  volume={2}
}
  • M. al-Maghtheh, C. Gregory, +2 authors S. Bhattacharya
  • Published 1993
  • Biology, Medicine
  • Human Mutation
  • Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X‐linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor‐specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual… CONTINUE READING
    45 Citations
    Gene mutations in retinitis pigmentosa and their clinical implications.
    • D. Wang, W. M. Chan, +5 authors C. Pang
    • Biology, Medicine
    • Clinica chimica acta; international journal of clinical chemistry
    • 2005
    • 93
    Photoreceptor dysplasia (pd) in miniature schnauzer dogs: evaluation of candidate genes by molecular genetic analysis.
    • 9
    • PDF

    References

    SHOWING 1-10 OF 44 REFERENCES
    Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
    • 384
    A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • 910
    • PDF
    Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
    • 336
    • PDF